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dbVar

Database of genomic structural variation

esv3592054

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:17,787

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 246 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):114,761,225-114,779,012

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3592054	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
esv3592054	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10632861	deletion	SAMN00249820	Sequencing	Read depth and paired-end mapping	Heterozygous	2,679
essv10632862	deletion	SAMN00249826	Sequencing	Read depth and paired-end mapping	Heterozygous	2,733
essv10632863	deletion	SAMN00249832	Sequencing	Read depth and paired-end mapping	Heterozygous	2,718
essv10632864	deletion	SAMN00249774	Sequencing	Read depth and paired-end mapping	Heterozygous	2,867
essv10632865	deletion	SAMN00249937	Sequencing	Read depth and paired-end mapping	Heterozygous	2,809
essv10632866	deletion	SAMN00263066	Sequencing	Read depth and paired-end mapping	Heterozygous	2,831
essv10632867	deletion	SAMN01096763	Sequencing	Read depth and paired-end mapping	Heterozygous	2,569

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10632861	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632862	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632863	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632864	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632865	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632866	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632867	Remapped	Perfect	NC_000002.12:g.(11 4761225_114761226) _(114779011_114779 012)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	114,761,225 (-0, +1)	114,779,011 (-0, +1)
essv10632861	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)
essv10632862	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)
essv10632863	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)
essv10632864	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)
essv10632865	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)
essv10632866	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)
essv10632867	Submitted genomic		NC_000002.11:g.(11 5518802_115518803) _(115536588_115536 589)del	GRCh37 (hg19)		NC_000002.11	Chr2	115,518,802 (-0, +1)	115,536,588 (-0, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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